Key Takeaways from LEAP Weekend 2026: Hope, Progress and Living Well Today

By Faye Bolan, PhD, Senior Analyst at Costello Medical

This year’s Learn, Empower, Advocate, Prepare (LEAP) conference in Manchester brought together families, clinicians and industry partners for honest discussion, practical advice and updates on the latest developments in Rett syndrome.

A key theme was balancing hope for the future with the realities of life today. Reverse Rett founders Rachael and Andy Stevenson reflected on the remarkable progress made over recent years. When the charity began, there were no Rett-specific clinical trials, there was little discussion of gene therapy and there were no established standards of care. Today, research is moving forward at an unprecedented pace. Yet they reminded families that while it’s important to look forward to future treatments, our children’s lives are happening now. Celebrating joy, connection and achievement in the present remains just as important as hoping for what lies ahead.

The realities of long-term caregiving and the importance of resilience and preparation were explored by consultant neurosurgeon and father, Thomas Carroll. Drawing on both personal and professional experience, he spoke candidly about the challenges his family has faced raising three children with genetic disorders, including financial pressures, social isolation and major life changes for him and his wife. His practical advice focused on planning ahead (“always have something to look forward to”), building support networks, maintaining relationships and finding personal interests beyond Rett syndrome. Above all, he encouraged families to take on adventures and to practice patience – with their daughters, themselves and others.

Dr Dan Lumsden shared his view on what is changing in Rett syndrome care and research. He highlighted how advances in genetic testing are enabling earlier diagnosis and helping families to avoid lengthy diagnostic journeys. He also described how our understanding of Rett syndrome has grown through large natural history studies, which have shown that Rett syndrome is a lifelong condition requiring lifelong care. While there is still work to do in ensuring specialist care is available consistently, he highlighted the growing momentum behind clinical trials and new treatments. Progress is happening, but it remains gradual.

Dr Katherine Martin provided tips on staying well day-to-day and emphasised that there is no single intervention that transforms health in Rett syndrome. Instead, positive outcomes come from a combination of good nutrition, physical therapies, bone health monitoring and attention to emotional wellbeing. Her message was that personalised, holistic care matters.

Respiratory health was another important focus. Professor Girish Sharma discussed how low muscle tone, swallowing difficulties and aspiration can increase the risk of respiratory complications. He highlighted the importance of monitoring and practical interventions such as airway clearance techniques, specialist feeding support and respiratory therapies. A follow-up practical session on the second day gave demonstrations of equipment and techniques that families may encounter as respiratory needs become more complex.

The conference also covered practical education and updates on gene therapies for Rett syndrome. Thomas Carroll explained the scientific, regulatory and practical steps that must be completed before gene therapies become widely available. Dr Jay Shetty and Margaret Lane then helped families understand what receiving a gene therapy might actually involve in practice. For instance, accessing treatment could require visits to specialist centres, monitoring requirements and periods of staying close to hospital teams. Industry updates from Neurogene and Taysha, the companies currently developing gene therapies for Rett syndrome, provided latest insights on trial progress with the next key data readouts from ongoing trials expected by next year.

Dr Jatinder Singh then introduced the emerging field of pharmacogenomics, which investigates how genetics may influence responses to medications. This research may eventually help clinicians ‘personalise’ prescribing and reduce unwanted side effects, particularly for individuals taking multiple medications, which is common in Rett syndrome.

The second day of the conference focused on resilience, practical care skills and the invaluable wisdom that comes from lived experience. Mark Reilly and Julie Tod reinforced the importance of movement, recovery and looking after your own wellbeing, reminding families that self-care is not a luxury but a necessity for sustaining long-term caregiving. Professor Girish Sharma and Siân Midwinter then gave practical tips for maintaining lung health to avoid complications.

The conference concluded with a powerful parent panel Q&A, with parents at different stages of the Rett journey. Speakers shared honest reflections on their experience with diagnosis, navigating service provision, puberty and family dynamics. Despite their differing experiences, common themes emerged: trust your instincts, build a strong team around your family, accept support when it is offered and remember that no parent gets everything right. As one panel member reflected, “we limp to wisdom over the hot coals of our mistakes.”

The conference closed with a clear message: families affected by Rett syndrome face extraordinary challenges, but they are not facing them alone. As Andy and Rachael reminded attendees, “You are stronger than you think you are—and when you’re not, Reverse Rett are here.”

Reverse Rett’s collaboration with Costello Medical brings together scientific expertise, health economics and patient advocacy to generate the evidence needed to improve the lives of people with Rett syndrome.

Some of the key areas of collaboration include:

• Understanding the true impact of Rett syndrome – Costello Medical has worked with Reverse Rett to develop the UK Rett Syndrome Cost of Illness Model, which quantifies the economic and societal impact of Rett syndrome on families, the NHS and wider society. This provides robust evidence to support policy discussions, funding decisions and equitable access to future treatments.
• Supporting access to new therapies – By generating high-quality health economic evidence, the collaboration helps ensure the UK is well prepared as new Rett syndrome treatments become available. This evidence is increasingly important for organisations such as NICE when assessing the value of innovative medicines.
• Translating research into real-world impact – Costello Medical’s expertise in health economics, evidence generation and scientific communications complements Reverse Rett’s research strategy, helping translate scientific advances into information that can influence healthcare policy and improve patient outcomes.
• Sharing expertise with the Rett community – Faye Bolan has contributed to Reverse Rett’s LEAP conferences, presenting work on the Cost of Illness Model and engaging with families, clinicians and researchers to explain why health economic evidence matters alongside scientific breakthroughs.

A huge thank you to Faye and everyone at Costello Medical for their continued partnership and support. Their expertise, is helping build the evidence needed to improve the lives of people living with Rett syndrome and support access to future treatments.